A patient with abetalipoproteinemia presents with retinitis pigmentosa, ataxia, and acanthocytosis. Which vitamin deficiency is most likely responsible for the neurological manifestations?
- A Vitamin E ✓
- B Vitamin D
- C Vitamin A
- D Vitamin K
Correct answer: A. Vitamin E
Explanation
Abetalipoproteinemia (Bassen-Kornzweig disease) is an autosomal recessive disorder causing defective microsomal triglyceride transfer protein, resulting in absent chylomicrons, VLDL, and LDL. Fat-soluble vitamins cannot be absorbed, but vitamin E deficiency is clinically most prominent, causing spinocerebellar ataxia, neuropathy, and retinitis pigmentosa. Vitamin C deficiency causes night blindness but not the full neurological syndrome seen here.
Reference: Harrison's Principles of Internal Medicine, 21st ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
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